ABSTRACT
BACKGROUND: The study aimed to evaluate and compare the leukocyte chemotactic activities of various brimonidine tartrate (BT) eye drop formulations. METHODS: A 96-well dot-blot platet using a Boyden-style well was used to study the chemotactic effects of BT ophthalmic preparations. A modification was made to create blind wells where the tested agents were placed. Leukocytes were isolated from the peripheral blood of healthy volunteers. As positive controls, we used diluted drugs, benzalkonium chloride solution (BAK), zymosan-activated serum, and formyl-methionine-leucine-phenylalanine peptides. The negative control in our study was a phosphate-buffered saline solution. For each experimental condition, we measured leukocyte migration through a Millipore membrane. The differences in the mean migration distance between groups were compared using the analysis of variance (ANOVA). RESULTS: The measured migration distances (in µm ± SD) were 62.14 ± 3.71 for BT 0.2% with BAK (Alcon Laboratories Inc.); 63.61 ± 3.81 for BT 0.2% with BAK (Allergan Inc); 40.36 ± 3.17 for BT 0.15% without BAK; and 41.02 ± 2.17 for BAK alone. The negative controls showed no chemotactic activity, while the positive controls showed the highest neutrophil migration of all experimental conditions. The differences between BT 0.15% without BAK and the other commercial formulations were statistically significant. CONCLUSION: Commercial ophthalmic preparations of BT 0.2% with BAK 0.005% had higher chemotactic properties than the alternative of a lower concentration of BT and without the preservative BAK. Therefore, the latter should be considered for patients with glaucoma or ocular hypertension in order to minimize iatrogenic ocular inflammation.
Subject(s)
Antihypertensive Agents/pharmacology , Brimonidine Tartrate/pharmacology , Chemotaxis, Leukocyte/drug effects , Neutrophils/drug effects , Ophthalmic Solutions/pharmacology , Administration, Topical , Adult , Humans , Middle Aged , Neutrophils/physiology , Young AdultABSTRACT
Resumo Objetivo: Determinar a prevalência de fatores predisponentes de baixa acuidade visual entre os alunos do Colégio Universitário Geraldo Reis em Niterói-RJ. Métodos: Trata-se de um estudo observacional transversal realizados em duas etapas. A primeira realizou-se a medida da acuidade visual dos alunos voluntários que aderiram ao termo de assentimento. Na segunda etapa foram selecionados aqueles alunos cuja acuidade visual não ultrapassaram 0,8 em pelo menos um dos olhos ou que apresentaram diferença de acuidade visual entre os olhos de duas linhas ou mais na tabela de Snellen, sendo encaminhados para avaliação oftalmológica completa no Serviço de Oftalmologia do Hospital Universitário Antônio Pedro / Universidade Federal Fluminense. Resultados: Do total de 325 alunos matriculados, 134 (41,2%) participaram da primeira etapa do estudo e, destes, apenas 39 (29%) apresentaram baixa visão. Dos 39 alunos selecionados para a segunda etapa do estudo, apenas 14 (36%) se voluntariaram a prosseguir para avaliação oftalmológica completa, tendo as ametropias (57,14%), a ambliopia (21,42%) e o estrabismo (14,28%) como as principais causas de baixa visual identificadas. Conclusão: A prevalência de baixa visão(low vision=baixa visão tem definição, não se chama baixa visual) para essa comunidade foi de 29% e as principais causas identificadas foram as ametropias, as ambliopias e o estrabismo. Campanhas de conscientização e os problemas de adesão aos programas de triagem devem ser considerados em novos estudos.
Abstract Purpose: To determine the prevalence of predisposing factors of low visual acuity among the students of the Geraldo Reis University College in Niterói-RJ. Methods: This was a cross-sectional observational study during which the visual acuity of the volunteer students who adhered to the assent term was measured. Those students whose visual acuity did not exceed 0.8 in at least one eye or who presented a difference between the eyes of two lines or more in the Snellen table were selected for the next stage of the study and were referred for complete ophthalmologic evaluation in the Service of Ophthalmology of the Antônio Pedro University Hospital / Fluminense Federal University. Results: Of the total of 325 students enrolled, 134 (41.2%) participated in the first stage of the study and of these, only 39 (29%) presented visual impairment. Of the 39 students selected for the second phase of the study, only 14 (36%) volunteered to proceed for a complete ophthalmologic evaluation, with ametropias (57.14%), amblyopia (21.42%) and strabismus (14, 28%) as the main causes of visual impairment identified. Conclusion: The prevalence of visual impairment for this community was 29% and the main causes identified were ametropias, amblyopia and strabismus. Awareness campaigns and problems of adherence to screening programs should be considered in new studies.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Students/statistics & numerical data , Vision Disorders/epidemiology , Visual Acuity/physiology , Vision, Low/epidemiology , Refractive Errors , Vision Disorders/diagnosis , Vision Screening , Amblyopia , Exotropia , Eye Health , Prevalence , Cross-Sectional Studies , Risk Factors , Observational StudyABSTRACT
PURPOSE: To compare anisometropic hypermetropic amblyopic and strabismic amblyopic responses to pattern electroretinogram (PERG) and pattern visual evocated potential (PVEP). MATERIALS AND METHODS: Fifty-six patients - 18 hypermetropic anisometropic amblyopic children (mean age 9.70±2.5 years), 19 strabismic amblyopic children (mean age 10.30±2.6 years) and 19 normal emetropic subjects (mean age 10.10±2.2 years) - were enrolled in this study. After routine ophthalmic examination, PERG and PVEP were recorded in response to checks reversed at the rate of two reversals/second stimulating macular area. RESULTS: The difference between hypermetropic anisometropic amblyopia and strabismus amblyopia with respect to P100/P50/N95 wave latencies (P=0.055/0.855/0.132) and P100/P50/N95 amplitudes (P=0.980/0.095/0.045) was not statistically significant. However, there was a significant statistical difference between strabismic amblyopia group and controls for P100/P50/N95 latencies (P=0.000/0.006/0.004). CONCLUSION: Our findings indicated that despite clinical differences between anisometropic amblyopic and strabismic amblyopic patients, no differences were found in the responses of PVEP and PERG. The abnormal components of the PVEP and PERG in amblyopic subjects could reflect a retinal dysfunction in the visual pathway.
ABSTRACT
BACKGROUND: To examine the immunohistochemical expression of heat shock protein 90 (Hsp90) and Ki-67 protein in human pterygium. MATERIALS AND METHODS: Tissues obtained during pterygium surgery of 15 patients who underwent the bare-sclera procedure and 10 normal conjunctivae were studied. All of these pterygia were primary ones. Recurrent pterygia were excluded. Normal bulbar conjunctivas (2 x 2 mm) were obtained from the nasal region close to the limbus from patients during their cataract and retina surgeries. Immunohistochemical detection of Hsp90 and Ki67 was done using the streptavidin-biotin method in paraffin embedded tissue sections. RESULTS: The percentage of cells stained for Hsp90 was greater for pterygium epithelium (76 ± 10.8) than for normal conjunctiva (1.4 ± 0.8). In each pterygium sample more than 60% of cells were positive. The differences in positive cells between normal and pterygium epithelium were highly significant for Hsp90 (P < 0,001).Pterygium epithelium also showed a higher percentage of cells that stained for Ki67 (10.1 ± 9.5) than for normal conjunctiva (2.1 ± 1.9). The differences in positive cells were also statistically significant for Ki67 (P < 0.01). Although there were significant differences in the majority of samples observed. It was noted that in some samples there was no difference between normal and pterygium epithelium for Ki67. CONCLUSION: Our results indicate an abnormal expression of Hsp90 and ki-67 in pterygium samples when compared to normal conjunctiva.The finding of abnormal expression of levels of Hsp90 in pterygium samples can stimulate new research into pterygium and its recurrence. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1128478792898812.
Subject(s)
Conjunctiva/chemistry , Epithelial Cells/chemistry , HSP90 Heat-Shock Proteins/analysis , Immunohistochemistry , Ki-67 Antigen/analysis , Pterygium/metabolism , Adult , Biomarkers/analysis , Case-Control Studies , Conjunctiva/surgery , Female , Humans , Male , Middle Aged , Paraffin Embedding , Pterygium/surgeryABSTRACT
Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systemic amyloidosis showing marked geographic clustering in Finland. The disease is caused by a point mutation, 654G-A, in the gelsolin gene. The Danish-subtype of FAF has been previously described in three families, the patients present clinical findings similar to FAF, and the mutation 654G-T in the gelsolin gene. Three members from two generations of the same family, with familial amyloidosis, were screened for mutations in the GSN gene. Genomic DNA was extracted from peripheral blood lymphocytes and the polymerase chain reaction (PCR) was carried out under standard conditions, using appropriate primers. Sequence analysis showed the presence of a G to T transition at nucleotide 654 of the gelsolin gene. This is the first report of gelsolin-related familial amyloidosis in a Brazilian family, and the result is particularly significant as this pedigree presents an unusual mutation, described previously in three families, with no known Finnish ancestors (Danish type).
Subject(s)
Amyloidosis, Familial/genetics , Corneal Dystrophies, Hereditary/genetics , Gelsolin/genetics , Point Mutation/genetics , Adult , Amyloidosis, Familial/diagnosis , Corneal Dystrophies, Hereditary/diagnosis , DNA Mutational Analysis , Female , Humans , Male , Middle Aged , Pedigree , Polymerase Chain ReactionABSTRACT
Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systemic amyloidosis showing marked geographic clustering in Finland. The disease is caused by a point mutation, 654G-A, in the gelsolin gene. The Danish-subtype of FAF has been previously described in three families, the patients present clinical findings similar to FAF, and the mutation 654G-T in the gelsolin gene. Three members from two generations of the same family, with familial amyloidosis, were screened for mutations in the GSN gene. Genomic DNA was extracted from peripheral blood lymphocytes and the polymerase chain reaction (PCR) was carried out under standard conditions, using appropriate primers. Sequence analysis showed the presence of a G to T transition at nucleotide 654 of the gelsolin gene. This is the first report of gelsolin-related familial amyloidosis in a Brazilian family, and the result is particularly significant as this pedigree presents an unusual mutation, described previously in three families, with no known Finnish ancestors (Danish type).
Amiloidose familiar do tipo finlandes (FAF) é uma forma de amiloidose sistêmica autossômica dominante com grande concentração geográfica na Finlândia. É causada por uma mutação, 654G-A, no gene gelsolin. O subtipo dinamarquês da FAF foi previamente descrito em três famílias, com achados clínicos similares mas com a mutação 654G-T no gene gelsolin. Três membros de duas gerações da mesma família, com diagnóstico de amiloidose familiar, foram submetidos a screening de mutações no gene gelsolin. O DNA genômico foi extraído de linfócitos do sangue periférico, sendo realizada reação em cadeia de polimerase (PCR) em condições padronizadas. A análise do sequenciamento revelou uma transição de G para T no nucleotidio 654 do gene gelsolin. Este é o primeiro relato de uma amiloidose familiar relacionada ao gene gelsolin em uma família brasileira, que apresenta uma forma rara de mutação, descrita previamente em três famílias, sem ancestrais finlandeses (tipo dinamarquês).
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Amyloidosis, Familial/genetics , Corneal Dystrophies, Hereditary/genetics , Gelsolin/genetics , Point Mutation/genetics , Amyloidosis, Familial/diagnosis , Corneal Dystrophies, Hereditary/diagnosis , DNA Mutational Analysis , Pedigree , Polymerase Chain ReactionABSTRACT
AIM: To evaluate ocular pulse amplitude (OPA) using the dynamic contour tonometer (DCT) in patients with asymmetric primary open-angle glaucoma (POAG) and asymmetric intra-ocular pressure (IOP). METHODS: The participants consisted of 48 patients (96 eyes) with asymmetric POAG. Three measurements of IOP and OPA were taken using DCT. The diagnosis of asymmetry required a difference of glaucomatous visual field loss greater than 6 dB in the global index MD and a difference of 5 mmHg in IOP measured by Goldmann tonometry between the more affected and the contra-lateral eye. All participants underwent full ophthalmologic clinical assessment including ultrasonic pachymetry and biometric measurements. Exclusion criteria were corneal diseases or scars, topical or systemic glaucomatous medications, and previous ocular surgery. RESULTS: No difference (p = 0.142) was found between the axial length measurements of the better eyes group (22.95 ± 0.91 mm) and worse eyes group (22.85 ± 0.97 mm). There was a statistically significant difference (p = 0.011) between the central corneal thickness values of the better eyes group (537.08 ± 29.54 µm) and worse eyes group (534.40 ± 29.87 µm). The OPA values of the better eyes group (3.32 ± 1.14 mmHg) were significantly lower (p = 0.001) than those obtained in the worse eyes group (3.83 ± 1.27 mmHg). When correcting the OPA readings by the IOP there was no statistical difference between groups (p = 0.996). CONCLUSION: Higher OPA values were found in eyes with higher IOP levels and advanced glaucoma's lesions in asymmetric hypertensive POAG patients. However, after the OPA correction by the IOP levels there was no more statistical difference between eyes.
Subject(s)
Blood Pressure/physiology , Glaucoma, Open-Angle/physiopathology , Intraocular Pressure/physiology , Regional Blood Flow/physiology , Tonometry, Ocular/instrumentation , Adult , Aged , Female , Humans , Male , Middle Aged , Ocular Hypertension/physiopathology , Risk Factors , Visual Fields/physiologyABSTRACT
BACKGROUND: The aim of this study was to evaluate the efficacy of a one-stage treatment for the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) using a combination of standard surgical techniques. METHODS: This is a retrospective interventional case series study of 21 BPES patients with a 1-year minimum follow-up period. The one-stage intervention combined three different surgical procedures in the following order: Z-epicanthoplasty for the epicanthus, transnasal wiring of the medial canthal ligaments for the telecanthus, and a bilateral fascia lata sling for ptosis correction. Preoperative and postoperative measurements of the horizontal lid fissure length (HFL), vertical lid fissure width (VFW), nasal intercanthal distance (ICD), and the ratio between the intercanthal distance and the horizontal fissure length (ICD/HFL) were analyzed using Student's t test for paired variables. RESULTS: The mean preoperative measurements were 4.95 ± 1.13 mm for the VFW, 20.90 ± 2.14 mm for the HFL, 42.45 ± 2.19 mm for the ICD, and 2.04 ± 0.14 mm for the ICD/HFL ratio. The mean postoperative measurements were 7.93 ± 1.02 mm for the VFW, 26.36 ± 1.40 mm for the HFL, 32.07 ± 1.96 mm for the ICD, and 1.23 ± 0.09 mm for the ICD/HFL ratio. All these values and their differences were statistically significant (P < 0.0001). All of the patients developed symmetric postoperative inferior version lagophthalmus, a complication that tended to decrease over time. CONCLUSION: One-stage correction of BPES is safe and efficient with the surgical techniques described.
Subject(s)
Blepharophimosis/surgery , Blepharoplasty/methods , Blepharoptosis/surgery , Eyelids/surgery , Adolescent , Adult , Blepharophimosis/diagnosis , Blepharoptosis/diagnosis , Brazil , Child , Child, Preschool , Esthetics , Female , Follow-Up Studies , Humans , Male , Retrospective Studies , Risk Assessment , Syndrome , Time Factors , Treatment Outcome , Young AdultABSTRACT
Objetivo: Analisar os possíveis fatores de desencadeamento de processos judiciais na área de oftalmologia. Método: Estudo retrospectivo de 70 casos de processos judiciais cíveis em oftalmologia. Foram avaliados em cada processo, a anamnese, o exame oftalmológico, os dados do paciente no momento do incidente, sexo, idade, diagnóstico inicial e diagnóstico da causa do processo, número de consultas antes e após o fato desencadeante, a realização de exames pré-operatórios mínimos de acordo com os protocolos da Cooperativa Estadual de Serviços Administrativos em Oftalmologia - COOESO, termo de consentimento informado, as folhas de descrição do procedimento, de enfermagem, de materiais e medicamentos do centro cirúrgico, do anestesista, da alta hospitalar e o valor da indenização. Resultados: Dos 70 casos analisados, com relação à acuidade visual final, 45 (64,3 por cento) apresentavam amaurose. Quanto às condições prévias ao tratamento, os diagnósticos foram: catarata 46 (65,7 por cento), ametropias 12 (17,1 por cento), trauma ocular 8 (11,4 por cento), glaucoma 3 (4,3 por cento) e descolamento de retina 1 (1,4 por cento). Com relação às principais complicações secundárias ao tratamento efetuado que deram motivação à lide, os diagnósticos foram: descolamento de retina 37 (52,8 por cento), acuidade visual insatisfatória pós cirurgia de catarata 12 (17,1 por cento), irregularidades corneanas após cirurgia refrativa 8 (11,4 por cento), endoftalmites 4 (5,7 por cento), desconforto com óculos prescritos 4 (5,7 por cento) e atrofia bulbar 4 (5,7 por cento). O número de consultas antes do início do processo foi de até duas em 67,1 por cento dos casos. Os processos decorrentes de cirurgia representaram 94,3 por cento da amostra. Termo de consentimento informado não foi utilizado em 63 por cento do total de casos cirúrgicos. Os valores de indenização pagos foram menores do que 50 mil reais em 72,7 por cento. Conclusões: Foram fatores importantes relacionados aos processos judiciais oftalmológicos: amaurose, tratamento cirúrgico, descolamento de retina, número reduzido de consultas pré-operatórias e ausência de termo de consentimento.
Purpose: To analyze the possible predisposing factors of lawsuits involving ophthalmologists. Methods: Retrospective study of 70 lawsuits involving the practice of Ophthalmology. The patient's gender, age, medical and ophthalmic history were reviewed. The eye disorder that generated the prosecution, the pre-existing ophthalmic diagnosis, the preoperative exams and the operating room data were also analyzed. The informed consent form, the outcome of the litigation and the value of compensation were recorded. Results: Blindness was reported in 45 (64.3 percent) of the 70 lawsuits and was the principal eye disorder related to litigation. The pre-existing eye diseases associated with legal claims were: cataracts in 46 (65.7 percent) lawsuits, refractive errors in 12 (17.1 percent), ocular trauma in 8 (11.4 percent), glaucoma in 3 (4.3 percent) and retinal detachment in 1 (1.4 percent) lawsuit. The major surgical complications that possibly motivated the patient to sue the ophthalmologist were retinal detachment in 37 (52.8 percent) lawsuits, poor visual acuity after cataract surgery in 12 (17.1 percent), corneal disorders following refractive surgery in 8 (11.4 percent), endophthalmitis in 4 (5.7 percent), discomfort with refractive prescriptions in 4 (5.7 percent) and ocular atrophy in 4 (5.7 percent) lawsuits. Ophthalmic surgery was involved in 94.3 percent of the 70 prosecutions analyzed. Two or less visits to the ophthalmologist preceding the surgical or refractive event leading to legal dispute were recorded in 67.1 percent of the lawsuits. A pre-surgical Informed consent form was not used in 63 percent of the 66 surgical procedures leading to litigation. 62.9 percent of the lawsuits were unfavorable to the Ophthalmologist and the amount of compensation was less than R$ 50,000 in 72.7 percent of these legal claims. Conclusions: Blindness, surgery, retinal detachment, few pre-operative ophthalmic visits and the lack of informed consent forms were possible risk factors associated with lawsuits in the field of Ophthalmology.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Malpractice/legislation & jurisprudence , Ophthalmologic Surgical Procedures/legislation & jurisprudence , Ophthalmology/legislation & jurisprudence , Brazil , Malpractice/statistics & numerical data , Medical Errors/legislation & jurisprudence , Patient Satisfaction , Postoperative Complications , Retrospective Studies , Risk Factors , Treatment Outcome , Visual Acuity/physiologyABSTRACT
PURPOSE: To analyze the possible predisposing factors of lawsuits involving ophthalmologists. METHODS: Retrospective study of 70 lawsuits involving the practice of Ophthalmology. The patient's gender, age, medical and ophthalmic history were reviewed. The eye disorder that generated the prosecution, the pre-existing ophthalmic diagnosis, the preoperative exams and the operating room data were also analyzed. The informed consent form, the outcome of the litigation and the value of compensation were recorded. RESULTS: Blindness was reported in 45 (64.3%) of the 70 lawsuits and was the principal eye disorder related to litigation. The pre-existing eye diseases associated with legal claims were: cataracts in 46 (65.7%) lawsuits, refractive errors in 12 (17.1%), ocular trauma in 8 (11.4%), glaucoma in 3 (4.3%) and retinal detachment in 1 (1.4%) lawsuit. The major surgical complications that possibly motivated the patient to sue the ophthalmologist were retinal detachment in 37 (52.8%) lawsuits, poor visual acuity after cataract surgery in 12 (17.1%), corneal disorders following refractive surgery in 8 (11.4%), endophthalmitis in 4 (5.7%), discomfort with refractive prescriptions in 4 (5.7%) and ocular atrophy in 4 (5.7%) lawsuits. Ophthalmic surgery was involved in 94.3% of the 70 prosecutions analyzed. Two or less visits to the ophthalmologist preceding the surgical or refractive event leading to legal dispute were recorded in 67.1% of the lawsuits. A pre-surgical Informed consent form was not used in 63% of the 66 surgical procedures leading to litigation. 62.9% of the lawsuits were unfavorable to the Ophthalmologist and the amount of compensation was less than R$ 50,000 in 72.7% of these legal claims. CONCLUSIONS: Blindness, surgery, retinal detachment, few pre-operative ophthalmic visits and the lack of informed consent forms were possible risk factors associated with lawsuits in the field of Ophthalmology.
Subject(s)
Malpractice/legislation & jurisprudence , Ophthalmologic Surgical Procedures/legislation & jurisprudence , Ophthalmology/legislation & jurisprudence , Adolescent , Adult , Aged , Aged, 80 and over , Brazil , Child , Child, Preschool , Female , Humans , Infant , Male , Malpractice/statistics & numerical data , Medical Errors/legislation & jurisprudence , Middle Aged , Patient Satisfaction , Postoperative Complications , Retrospective Studies , Risk Factors , Treatment Outcome , Visual Acuity/physiologyABSTRACT
Em meados da década de 90, o crosslinking de colágeno corneano foto-induzido utilizando riboflavina foi proposto como uma nova modalidade terapêutica no tratamento do ceratocone. Desde então foram estudados os efeitos deste procedimento em ambiente laboratorial e posteriormente em ensaios clínicos. Neste artigo, revisamos a literatura que já foi publicada até o momento no intuito de expor sobre o procedimento e seus efeitos.
In middle of 90th decade, corneal collagen crosslinking photo-induced by riboflavin was considered as a new therapeutical modality in the treatment of keratoconus. Since then, the clinical effect of this procedure in laboratorial environment and clinical assays had been studied. In this article, we revise the literature already published until the moment in order to display on the procedure and its effects.
Subject(s)
Photosensitizing Agents/therapeutic use , Combined Modality Therapy , Cross-Linking Reagents , Keratoconus/therapy , Collagen/radiation effects , Phototherapy , Riboflavin/therapeutic use , Ultraviolet Rays , Ultraviolet Therapy , Visual AcuityABSTRACT
A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis.
Subject(s)
Cleft Lip/diagnosis , Ectodermal Dysplasia/diagnosis , Eye Diseases, Hereditary/diagnosis , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Adult , Cleft Lip/genetics , Ectodermal Dysplasia/genetics , Eye Diseases, Hereditary/genetics , Female , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Humans , SyndromeSubject(s)
Abnormalities, Multiple/diagnosis , Choroid/abnormalities , Coloboma/diagnosis , Optic Disk/abnormalities , Retina/abnormalities , Adult , Fluorescein Angiography , Growth Disorders/diagnosis , Hearing Loss, Sensorineural/diagnosis , Heart Defects, Congenital/diagnosis , Humans , Hypogonadism/diagnosis , Intellectual Disability/diagnosis , Male , Visual Field Tests , Visual FieldsABSTRACT
Descrição de um caso da síndrome de displasia ectodérmica, ectrodactilia e fissura lábio-palatal (EEC), doença rara com importante acometimento ocular. Paciente de 26 anos, com queixa de dor, fotofobia e baixa acuidade visual no olho esquerdo há três dias, submetida à investigação genética, após exames físico e oftalmológico completos. Foi diagnosticado síndrome EEC e identificadas todas as alterações sistêmicas e oculares. Apresentava uma úlcera paracentral estéril no olho esquerdo, com dificuldades de cicatrização devido às alterações oculares próprias da síndrome (alteração do filme lacrimal, triquíase, ausência de glândulas de Meibomius, entre outras). Foi feita descrição das alterações oculares nessa síndrome rara, para que haja tratamento preventivo e diminuam os riscos de baixa de acuidade visual em pacientes que recebam esse diagnóstico genético.
A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis.
Subject(s)
Humans , Female , Adult , Cleft Lip/diagnosis , Ectodermal Dysplasia/diagnosis , Eye Diseases, Hereditary/diagnosis , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Cleft Lip/genetics , Ectodermal Dysplasia/genetics , Eye Diseases, Hereditary/genetics , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , SyndromeABSTRACT
CASE REPORT: This is a case report of an 81-year-old woman with previous breast cancer. The patient presented with a history of unilateral painless red eye and displayed on examination a nodule in the superior orbital rim, proptosis, and neurotrophic keratitis. Clinical and radiographic examinations were followed by biopsy of the orbital mass. Computed tomography displayed an extraconal mass adjacent to the left superior orbital rim extending to the soft tissues. Light microscopy findings suggested the diagnosis of orbital metastatic breast carcinoma that was confirmed by immunohistochemistry. The histopathologic diagnosis was metastatic adenocarcinoma of the breast to the left orbit. COMMENTS: This study emphasizes that orbital metastasis must be considered in patients with ocular complaints and neoplastic disease thought to be stable.
Subject(s)
Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/secondary , Keratitis/diagnosis , Orbital Neoplasms/secondary , Aged, 80 and over , Biopsy , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/radiotherapy , Carcinoma, Ductal, Breast/diagnostic imaging , Carcinoma, Ductal, Breast/radiotherapy , Diagnosis, Differential , Female , Humans , Orbital Neoplasms/diagnostic imaging , Orbital Neoplasms/radiotherapy , Tomography, X-Ray ComputedABSTRACT
Objetivo: Pesquisar mutações no gene TGFBI (OMIM *601692) e correlacioná-las com os achados oftalmológicos em pacientes da população brasileira portadores de uma das seguintes distrofias de córnea: distrofia lattice tipo I (OMIM #122200), distrofia de Reis-Bücklers (OMIM #121900), distrofia granular (OMIM #121900) e distrofia de Avellino (OMIM #607541). Métodos: Participaram do estudo 47 pacientes de 11 famílias não relacionadas, portadores de distrofia de córnea. Os propósitos das 11 famílias foram submetidos à coleta de sangue periférico para extração do DNA genômico leucocitário, sendo realizados PCR, SSCP e seqüenciamento para pesquisa de mutações no gene TGFBI. Os resultados encontrados no seqüenciamento foram comparados à seqüência normal de nucleotídeos do gene TGFBI. Resultados: Foram detectadas mutações no gene TGFBI em 8 dos 11 propósitos estudados. Considerando-se o diagnóstico clínico inicial e as mutações detectadas, os resultados encontrados foram os seguintes: distrofia lattice - R 124C e A546D; distrofia de Reis--Bücklers - R124L e R555Q; distrofia granular - R555W, e distrofia de Avellino R555W. O propósito da família 1, com diagnóstico histopatológico de distrofia lattice e os propósitos das famílias 9 e 10 com diagnóstico clínico de distrofia granular, não apresentaram mutação nos éxons 4 e 12. No caso de distrofia lattice sem mutação nos éxons 4 e 12, foram investigados os éxons 11 e 14, não sendo observada nenhuma mutação. O SSCP detectou a presença de polimorfismo no éxon 12. Conclusões: Foram encontradas mutações no gene TGFBI similares às previamente descritas na literatura em populações de outras nacionalidades. A avaliação da relação entre os achados do exame oftalmológico e as mutações encontradas demonstrou a importância da realização dos estudos de biologia molecular com o objetivo de melhorar a acurácia da classificação das distrofias de córnea ligadas ao gene TGFBI.
Subject(s)
Cornea , Corneal Dystrophies, Hereditary , MutationABSTRACT
OBJETIVOS: Analisar os resultados laboratoriais de conjuntivites e ceratites com cultura positiva para Streptococcus sp, avaliando a incidência das diferentes espécies e os dados dos antibiogramas. MÉTODOS: Estudo retrospectivo de revisão de prontuários de pacientes encaminhados ao laboratório de Doenças Externas do Departamento de Oftalmologia da UNIFESP com resultado de cultivo bacteriano positivo de córnea ou conjuntiva e com identificação de alguma cepa do gênero Streptococcus sp, no período de janeiro de 1995 a dezembro de 2001. Analisou-se idade do paciente, espécie de Streptococcus e os testes de sensibilidade aos seguintes antibióticos: cefalotina, amicacina, gentamicina, tobramicina, ciprofloxacina, lomefloxacina, ofloxacina, norfloxacina e vancomicina. RESULTADOS: As espécies mais encontradas foram Streptococcus pneumoniae e Streptococcus viridans. Com relação aos antibióticos, a sensibilidade foi maior à cefalotina, às quinolonas e à vancomicina. CONCLUSÕES: Considerando-se os antibióticos tópicos comercialmente disponíveis, as quinolonas apresentam melhor espectro de ação quando comparadas aos aminoglicosídios.
Subject(s)
Humans , Adolescent , Keratitis/microbiology , Conjunctivitis, Bacterial/microbiology , Eye Infections, Bacterial/microbiology , Microbial Sensitivity Tests , Viridans Streptococci/isolation & purification , Streptococcus pneumoniae/isolation & purification , Streptococcus/isolation & purification , Anti-Bacterial Agents/therapeutic use , Cephalothin/therapeutic use , Keratitis/drug therapy , Conjunctivitis, Bacterial/drug therapy , Quinolones/therapeutic use , Retrospective Studies , Vancomycin/therapeutic useABSTRACT
Objetivo: Relatar um caso de Síndrome de Brown secundária a implante de drenagem no quadrante nasal superior. Local: Departamento de Oftalmologia, Universidade Federal Fluminense, Niterói - RJ. Método: Relato de caso. Resultado: Paciente com glaucoma neovascular secundário à oclusão de artéria central da retina foi submetido a implante de drenagem no quadrante nasal superior, evoluindo com Síndrome de Brown secundária. Conclusão: Este relato descreve um caso de Síndrome de Brown adquirida após implante de drenagem, mostrando que esta pode ser uma complicação relacionada à localização do implante no quadrante nasal superior.
